日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

A repeat expansion in GOLGA8A is a major risk factor for atypical frontotemporal lobar degeneration with ubiquitin-positive inclusions

GOLGA8A基因的重复扩增是伴有泛素阳性包涵体的非典型额颞叶变性的主要风险因素。

De Coster, Wouter; Van den Broeck, Marleen; Baker, Matt; Ghayal, Nikhil B; Wynants, Sarah; Batzler, Anthony; Pottier, Cyril; Alidadiani, Sara; Küçükali, Fahri; Jenkins, Gregory D; Policarpo, Rafaela; van Blitterswijk, Marka; DeJesus-Hernandez, Mariely; Soto-Beasley, Alexandra I; Faura, Júlia; Coopman, Elise; Hutten, Saskia; Mol, Merel O; Wallon, David; Sieben, Anne; Finger, Elizabeth C; Murray, Melissa E; Forrest, Shelley L; Tartaglia, Maria C; Troakes, Claire; van Rooij, Jeroen G J; Nguyen, Aivi T; Reichard, R Ross; Woodman, Natalie L; Nana, Alissa L; Weintraub, Sandra; Gefen, Tamar; De Vil, Bart; Bodi, Istvan; Lopez, Oscar L; Boluda, Susana; Belliard, Serge; Lebert, Florence; Marguet, Florent; Mao, Qinwen; Mesulam, Marsel M; Boxer, Adam L; Vandenbulcke, Mathieu; Suh, EunRan; Schaeverbeke, Jolien; Lambert, Jean-Charles; Scholz, Sonja W; Dalgard, Clifton L; Traynor, Bryan J; Gibbs, Raphael J; Schellenberg, Gerard D; Dormann, Dorothee; Joris, Geert; De Pooter, Tim; De Rijk, Peter; D'Hert, Svenn; Van Dongen, Jasper; van der Zee, Julie; Strazisar, Mojca; Gearing, Marla; Kukar, Thomas; Flanagan, Margaret; Engelborghs, Sebastiaan; Ghetti, Bernardino; Newell, Kathy L; King, Andrew; Roeber, Sigrun; Rosen, Howard J; Spina, Salvatore; Cras, Patrick; Ertekin-Taner, Nilüfer; Wszolek, Zbigniew K; Uitti, Ryan J; Cheshire, William P; Singer, Wolfgang; Herms, Jochen; Josephs, Keith A; Whitwell, Jennifer L; Petersen, Ronald C; Pasquier, Florence; Nicolas, Gaël; Castellani, Rudolph; Glass, Jonathan; Miller, Bruce L; Kovacs, Gabor G; Rissman, Robert A; Hiniker, Annie; Deramecourt, Vincent; Ang, Lee-Cyn; Lee-Way, Jin; Van Deerlin, Vivianna M; Dugger, Brittany N; Thal, Dietmar R; Grinberg, Lea T; Cruchaga, Carlos; Arzberger, Thomas; Munoz, David G; Keith, Julia; Zinman, Lorne; Rogaeva, Ekaterina; Lee, Edward B; Haggarty, Stephen J; Ansorge, Olaf; Husain, Masud; Halliday, Glenda M; Al-Sarraj, Safa; Ross, Owen A; Sleegers, Kristel; Vandenberghe, Rik; Boeve, Bradley F; Graff-Radford, Neill R; Kofler, Julia; White, Charles L 3rd; Lashley, Tammaryn; Neumann, Manuela; Biernacka, Joanna M; Seeley, William W; Seelaar, Harro; van Swieten, John C; Rohrer, Jonathan D; Dickson, Dennis W; Mackenzie, Ian R A; Rademakers, Rosa

Nanopore long-read sequencing for the critically ill facilitates ultrarapid diagnostics and urgent clinical decision making

纳米孔长读长测序技术可帮助危重病人实现超快速诊断和紧急临床决策。

Smits, Daphne J; Ferraro, Federico; Drost, Mark; van der Linde, Herma C; de Graaf, Bianca M; van Bever, Yolande; Brooks, Alice S; Bardina, Livija; Brüggenwirth, Hennie T; Debuy, Christophe; Donker Kaat, Laura; van Dijk, Bastiaan T; van Engelen, Nienke; Geeven, Geert; van de Graaf, Raoul; van Haaften-Visser, Désirée Y; van Hasselt, Peter M; Heijsman, Daphne; Hendriks, Yvonne M C; Hitti-Malin, Rebekkah J; Hoefsloot, Lies H; Huijbregts, Glenn; IJspeert, Hanna; Lamballais, Sander; Mijalkovic, Jona; Mol, Merel O; Nawawi, Diënna; Nederpelt, Nadine; Nibbeling, Esther A R; Te Rijdt, Wouter; Schot, Rachel; van Slegtenhorst, Marjon; Sleutels, Frank; Ulenkate, Eva L M; Van Veghel-Plandsoen, Monique; Verhagen, Judith M A; Vos, David; Wauters, Erwin; Wilke, Martina; Sylva, Marc; Barakat, Tahsin Stefan; van Ham, Tjakko J; Kleefstra, Tjitske; Rots, Dmitrijs; Verhoeven, Virginie J M

ISGylation is disrupted by UBA7 gene variants identified in individuals with neurodevelopmental disorder phenotypes

在患有神经发育障碍表型的个体中发现的UBA7基因变异会破坏ISGylation。

Bandi, Venkateshwarlu; Venema, Myrrhe; Wallace, Iona; Mol, Merel O; Nikoncuk, Anita; Schot, Rachel; van Slegtenhorst, Marjon; Bijlsma, Emilia K; Khan, Amjad; White, Susan M; Rius, Rocio; Delatycki, Martin B; Narayanan, Vinodh; Swatek, Kirby N; Barakat, Tahsin Stefan; Bustos, Francisco

Domain mapping of disease mutations reveals pathogenic SORL1 variants in Alzheimer's disease

疾病突变的结构域定位揭示了阿尔茨海默病中的致病性SORL1变异

Andersen, Olav M; de Waal, Matthijs W J; Monti, Giulia; Tesi, Niccolo; Jensen, Anne Mette G; de Geus, Christa; van Spaendonk, Rosalina; Vogel, Maartje; Ahmad, Shahzad; Amin, Najaf; Amouyel, Philippe; Beecham, Gary W; Bellenguez, Céline; Berr, Claudine; Bis, Joshua C; Boland, Anne; Bossù, Paola; Bouwman, Femke; Bras, Jose; Charbonnier, Camille; Clarimon, Jordi; Cruchaga, Carlos; Daniele, Antonio; Dartigues, Jean-François; Debette, Stéphanie; Deleuze, Jean-François; Denning, Nicola; DeStefano, Anita L; Dols-Icardo, Oriol; van Duijn, Cornelia M; Farrer, Lindsay A; Fernández, Maria Victoria; van der Flier, Wiesje M; Fox, Nick C; Galimberti, Daniela; Genin, Emmanuelle; Gille, Johan J P; Grenier-Boley, Benjamin; Grozeva, Detelina; Guen, Yann Le; Guerreiro, Rita; Haines, Jonathan L; Holmes, Clive; Hummerich, Holger; Arfan Ikram, M; Kamran Ikram, M; Kawalia, Amit; Kraaij, Robert; Lambert, Jean-Charles; Lathrop, Marc; Lemstra, Afina W; Lleó, Alberto; Myers, Richard M; Mannens, Marcel M A M; Marshall, Rachel; Martin, Eden R; Masullo, Carlo; Mayeux, Richard; Mead, Simon; Mecocci, Patrizia; Meggy, Alun; Mol, Merel O; Nacmias, Benedetta; Naj, Adam C; Napolioni, Valerio; Nicholas Cochran, J; Nicolas, Gaël; Pasquier, Florence; Pastor, Pau; Pericak-Vance, Margaret A; Pijnenburg, Yolande A L; Piras, Fabrizio; Quenez, Olivier; Ramirez, Alfredo; Raybould, Rachel; Redon, Richard; Reinders, Marcel J T; Richard, Anne-Claire; Riedel-Heller, Steffi G; Rivadeneira, Fernando; van Rooij, Jeroen G J; Rousseau, Stéphane; Ryan, Natalie S; Sanchez-Juan, Pascual; Schellenberg, Gerard D; Scheltens, Philip; Schott, Jonathan M; Seshadri, Sudha; Sie, Daoud; Sims, Rebecca; Sistermans, Erik A; Sorbi, Sandro; van Swieten, John C; Tijms, Betty; Uitterlinden, André G; Visser, Pieter Jelle; Wagner, Michael; Wallon, David; Wang, Li-San; Williams, Julie; Yokoyama, Jennifer S; Zarea, Aline; van der Lee, Sven J; Olsen, Johan G; Hulsman, Marc; Holstege, Henne

Methylome analysis of FTLD patients with TDP-43 pathology identifies epigenetic signatures specific to pathological subtypes.

对具有 TDP-43 病理的 FTLD 患者进行甲基化组分析,可识别出病理亚型特有的表观遗传特征

Vicente Cristina T, Niranjan Tejasvi, Coopman Elise, Faura Júlia, Alidadiani Sara, Schrauwen Claudia, Matchett Billie J, Heeman Bavo, Van den Broeck Marleen, De Coster Wouter, Nguyen Thuy, Lau Julie S, Baheti Saurabh, de Pooter Tim, De Rijk Peter, Strazisar Mojca, Baker Matt, DeJesus-Hernandez Mariely, Finch NiCole A, Pottier Cyril, van Blitterswijk Marka, Asmann Yan, Murray Melissa E, Petrucelli Leonard, King Andrew, Troakes Claire, Al-Sarraj Safa, Rissman Robert A, Hiniker Annie, Flanagan Margaret, Evers Bret M, White Charles L 3rd, Cruchaga Carlos, Castellani Rudolph, van Rooij Jeroen G J, Mol Merel O, Seelaar Harro, van Swieten John C, Oskarsson Björn, Reichard Robert Ross, Nguyen Aivi T, Josephs Keith A, Petersen Ronald C, Ertekin-Taner Nilüfer, Boeve Bradley F, Graff-Radford Neill R, Weckhuysen Sarah, Dickson Dennis W, Rademakers Rosa

Deciphering distinct genetic risk factors for FTLD-TDP pathological subtypes via whole-genome sequencing

通过全基因组测序解析FTLD-TDP病理亚型的不同遗传风险因素

Pottier, Cyril; Küçükali, Fahri; Baker, Matt; Batzler, Anthony; Jenkins, Gregory D; van Blitterswijk, Marka; Vicente, Cristina T; De Coster, Wouter; Wynants, Sarah; Van de Walle, Pieter; Ross, Owen A; Murray, Melissa E; Faura, Júlia; Haggarty, Stephen J; van Rooij, Jeroen Gj; Mol, Merel O; Hsiung, Ging-Yuek R; Graff, Caroline; Öijerstedt, Linn; Neumann, Manuela; Asmann, Yan; McDonnell, Shannon K; Baheti, Saurabh; Josephs, Keith A; Whitwell, Jennifer L; Bieniek, Kevin F; Forsberg, Leah; Heuer, Hilary; Lago, Argentina Lario; Geier, Ethan G; Yokoyama, Jennifer S; Oddi, Alexis P; Flanagan, Margaret; Mao, Qinwen; Hodges, John R; Kwok, John B; Domoto-Reilly, Kimiko; Synofzik, Matthis; Wilke, Carlo; Onyike, Chiadi; Dickerson, Bradford C; Evers, Bret M; Dugger, Brittany N; Munoz, David G; Keith, Julia; Zinman, Lorne; Rogaeva, Ekaterina; Suh, EunRan; Gefen, Tamar; Geula, Changiz; Weintraub, Sandra; Diehl-Schmid, Janine; Farlow, Martin R; Edbauer, Dieter; Woodruff, Bryan K; Caselli, Richard J; Donker Kaat, Laura L; Huey, Edward D; Reiman, Eric M; Mead, Simon; King, Andrew; Roeber, Sigrun; Nana, Alissa L; Ertekin-Taner, Nilufer; Knopman, David S; Petersen, Ronald C; Petrucelli, Leonard; Uitti, Ryan J; Wszolek, Zbigniew K; Ramos, Eliana Marisa; Grinberg, Lea T; Tempini, Maria Luisa Gorno; Rosen, Howard J; Spina, Salvatore; Piguet, Olivier; Grossman, Murray; Trojanowski, John Q; Keene, C Dirk; Jin, Lee-Way; Prudlo, Johannes; Geschwind, Daniel H; Rissman, Robert A; Cruchaga, Carlos; Ghetti, Bernardino; Halliday, Glenda M; Beach, Thomas G; Serrano, Geidy E; Arzberger, Thomas; Herms, Jochen; Boxer, Adam L; Honig, Lawrence S; Vonsattel, Jean P; Lopez, Oscar L; Kofler, Julia; White, Charles L 3rd; Gearing, Marla; Glass, Jonathan; Rohrer, Jonathan D; Irwin, David J; Lee, Edward B; Van Deerlin, Vivianna; Castellani, Rudolph; Mesulam, Marsel M; Tartaglia, Maria C; Finger, Elizabeth C; Troakes, Claire; Al-Sarraj, Safa; Dalgard, Clifton L; Miller, Bruce L; Seelaar, Harro; Graff-Radford, Neill R; Boeve, Bradley F; Mackenzie, Ian Ra; van Swieten, John C; Seeley, William W; Sleegers, Kristel; Dickson, Dennis W; Biernacka, Joanna M; Rademakers, Rosa

Brain transcriptomics highlight abundant gene expression and splicing alterations in non-neuronal cells in aFTLD-U

脑转录组学研究揭示了aFTLD-U患者非神经元细胞中大量基因表达和剪接改变。

Alidadiani, Sara; Faura, Júlia; Wynants, Sarah; Peeters, Nele; Van den Broeck, Marleen; De Witte, Linus; Policarpo, Rafaela; Cheung, Simon; Pottier, Cyril; Ghayal, Nikhil B; Mol, Merel O; van Blitterswijk, Marka; Udine, Evan; DeJesus-Hernandez, Mariely; Baker, Matthew; Finch, NiCole A; Asmann, Yan W; van Rooij, Jeroen G J; Nguyen, Aivi T; Ross Reichard, R; Nana, Alissa L; Lopez, Oscar L; Boxer, Adam L; Rosen, Howard J; Spina, Salvatore; Herms, Jochen; Josephs, Keith A; Petersen, Ronald C; Rissman, Robert A; Hiniker, Annie; Ang, Lee-Cyn; Grinberg, Lea T; Halliday, Glenda M; Boeve, Bradley F; Graff-Radford, Neill R; Seelaar, Harro; Neumann, Manuela; Kofler, Julia; White, Charles L 3rd; Seeley, William W; van Swieten, John C; Dickson, Dennis W; Mackenzie, Ian R A; De Coster, Wouter; Rademakers, Rosa

UNC13A Polymorphism Influences Survival in Patients with Frontotemporal Dementia

UNC13A多态性影响额颞叶痴呆患者的生存期

Reus, Lianne M; Willemse, Sean W; de Boer, Sterre C M; De Houwer, Julie; Hartog, Willem L; Mol, Merel O; van Rooij, Jeroen G J; Tesi, Niccolo; Donker Kaat, Laura; Hulsman, Marc; Vijverberg, Everard G B; Holstege, Henne; van Rheenen, Wouter; Veldink, Jan H; van den Berg, Leonard H; van Swieten, John C; Seelaar, H; van der Lee, Sven J; van Es, Michael A; Pijnenburg, Yolande A L

Correction: Proteomics of the temporal cortex in semantic dementia reveals brain-region specific molecular pathology and regulation of the TDP-43-ANXA11 interactome

更正:语义性痴呆颞叶皮层的蛋白质组学研究揭示了脑区特异性分子病理学以及TDP-43-ANXA11相互作用组的调控

Miedema, Suzanne S M; Rajicic, Ana; Mol, Merel O; Paliukhovich, Iryna; Klaassen, Remco V; van Buuren, Renee; Li, Ka Wan; Koopmans, Frank T W; Seelaar, Harro; van Rooij, Jeroen G J; Smit, August B; van Swieten, John C

Proteomics of the temporal cortex in semantic dementia reveals brain-region specific molecular pathology and regulation of the TDP-43-ANXA11 interactome

语义性痴呆颞叶皮层的蛋白质组学研究揭示了脑区特异性的分子病理学以及TDP-43-ANXA11相互作用组的调控。

Miedema, Suzanne S M; Rajicic, Ana; Mol, Merel O; Paliukhovich, Iryna; Klaassen, Remco V; van Buuren, Renee; Li, Ka Wan; Koopmans, Frank T W; Seelaar, Harro; van Rooij, Jeroen G J; Smit, August B; van Swieten, John C